Linked Data
ClinVar Variation Id:
404718
ClinVar RCV Id:
RCV000459308
RCV000714640
RCV000714639
RCV000765573
RCV000852527
RCV002402232
RCV003139609
dbSNP Id:
rs368572799
ExAC:
2:179498235 C / T
gnomAD v2:
2-179498235-C-T
gnomAD v3:
2-178633508-C-T
gnomAD v4:
2-178633508-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178633508C>T , CM000664.2:g.178633508C>T | GRCh38 |
| NC_000002.11:g.179498235C>T , CM000664.1:g.179498235C>T | GRCh37 |
| NC_000002.10:g.179206480C>T | NCBI36 |
| NG_011618.3:g.202295G>A , LRG_391:g.202295G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.35147G>A | ENSP00000343764.6:p.Arg11716His | |
| ENST00000342175.11:c.16232G>A | ENSP00000340554.6:p.Arg5411His | |
| ENST00000359218.10:c.16031G>A | ENSP00000352154.5:p.Arg5344His | |
| ENST00000342175.10:c.16232G>A | ENSP00000340554.6:p.Arg5411His | |
| ENST00000342992.10:c.35147G>A | ENSP00000343764.6:p.Arg11716His | |
| ENST00000359218.9:c.16031G>A | ENSP00000352154.5:p.Arg5344His | |
| ENST00000460472.6:c.15656G>A | ENSP00000434586.1:p.Arg5219His | |
| ENST00000589042.5:c.42851G>A MANE Select | ENSP00000467141.1:p.Arg14284His | |
| ENST00000591111.5:c.37928G>A | ENSP00000465570.1:p.Arg12643His | |
| ENST00000615779.4:c.37928G>A | ENSP00000483597.1:p.Arg12643His | |
| NM_001256850.1:c.37928G>A | NP_001243779.1:p.Arg12643His | |
| NM_001267550.2:c.42851G>A MANE Select | NP_001254479.2:p.Arg14284His | |
| NM_003319.4:c.15656G>A | NP_003310.4:p.Arg5219His | |
| NM_133378.4:c.35147G>A | NP_596869.4:p.Arg11716His | |
| NM_133432.3:c.16031G>A | NP_597676.3:p.Arg5344His | |
| NM_133437.4:c.16232G>A | NP_597681.4:p.Arg5411His | |
| XM_011511729.1:c.41948G>A | XP_011510031.1:p.Arg13983His | |
| XM_011511730.1:c.15842G>A | XP_011510032.1:p.Arg5281His | |
| XM_011511731.1:c.15701G>A | XP_011510033.1:p.Arg5234His | |
| XM_017004819.1:c.41744G>A | XP_016860308.1:p.Arg13915His | |
| XM_017004820.1:c.37142G>A | XP_016860309.1:p.Arg12381His | |
| XM_017004821.1:c.37139G>A | XP_016860310.1:p.Arg12380His | |
| XM_017004822.1:c.34181G>A | XP_016860311.1:p.Arg11394His | |
| XM_017004823.1:c.15797G>A | XP_016860312.1:p.Arg5266His | |
| XM_024453094.1:c.37292G>A | XP_024308862.1:p.Arg12431His | |
| XM_024453095.1:c.37289G>A | XP_024308863.1:p.Arg12430His | |
| XM_024453096.1:c.36722G>A | XP_024308864.1:p.Arg12241His | |
| XM_024453097.1:c.34064G>A | XP_024308865.1:p.Arg11355His | |
| XM_024453098.1:c.33983G>A | XP_024308866.1:p.Arg11328His | |
| XM_024453099.1:c.15746G>A | XP_024308867.1:p.Arg5249His | |
| XM_024453100.1:c.5600G>A | XP_024308868.1:p.Arg1867His |